rs1805414
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Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_001618.4(PARP1):āc.852T>Cā(p.Ala284=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.365 in 1,612,866 control chromosomes in the GnomAD database, including 115,585 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: š 0.42 ( 14757 hom., cov: 33)
Exomes š: 0.36 ( 100828 hom. )
Consequence
PARP1
NM_001618.4 synonymous
NM_001618.4 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -2.58
Genes affected
PARP1 (HGNC:270): (poly(ADP-ribose) polymerase 1) This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -13 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.81).
BP7
?
Synonymous conserved (PhyloP=-2.58 with no splicing effect.
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.786 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PARP1 | NM_001618.4 | c.852T>C | p.Ala284= | synonymous_variant | 7/23 | ENST00000366794.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PARP1 | ENST00000366794.10 | c.852T>C | p.Ala284= | synonymous_variant | 7/23 | 1 | NM_001618.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.424 AC: 64471AN: 151942Hom.: 14726 Cov.: 33
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GnomAD3 exomes AF: 0.426 AC: 107127AN: 251338Hom.: 25452 AF XY: 0.413 AC XY: 56066AN XY: 135860
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GnomAD4 exome AF: 0.358 AC: 523678AN: 1460806Hom.: 100828 Cov.: 38 AF XY: 0.357 AC XY: 259707AN XY: 726764
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GnomAD4 genome ? AF: 0.425 AC: 64564AN: 152060Hom.: 14757 Cov.: 33 AF XY: 0.429 AC XY: 31862AN XY: 74320
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at